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Protein

Glycosyltransferase 8 domain-containing protein 1

Gene

GLT8D1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase

Protein family/group databases

CAZyiGT8 Glycosyltransferase Family 8

Names & Taxonomyi

Protein namesi
Recommended name:
Glycosyltransferase 8 domain-containing protein 1 (EC:2.4.1.-)
Gene namesi
Name:GLT8D1
Synonyms:GALA4A
ORF Names:AD-017, MSTP137, UNQ572/PRO1134
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000016864.16
HGNCiHGNC:24870 GLT8D1
neXtProtiNX_Q68CQ7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 7CytoplasmicSequence analysis7
Transmembranei8 – 28Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini29 – 371LumenalSequence analysisAdd BLAST343

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi55830
OpenTargetsiENSG00000016864
PharmGKBiPA134947079

Polymorphism and mutation databases

DMDMi152125896

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002885281 – 371Glycosyltransferase 8 domain-containing protein 1Add BLAST371

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi249N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi257N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ68CQ7
MaxQBiQ68CQ7
PaxDbiQ68CQ7
PeptideAtlasiQ68CQ7
PRIDEiQ68CQ7

PTM databases

iPTMnetiQ68CQ7
PhosphoSitePlusiQ68CQ7

Expressioni

Gene expression databases

BgeeiENSG00000016864
CleanExiHS_GLT8D1
ExpressionAtlasiQ68CQ7 baseline and differential
GenevisibleiQ68CQ7 HS

Organism-specific databases

HPAiHPA010588

Interactioni

Protein-protein interaction databases

BioGridi120935, 10 interactors
IntActiQ68CQ7, 5 interactors
MINTiQ68CQ7
STRINGi9606.ENSP00000266014

Structurei

3D structure databases

ProteinModelPortaliQ68CQ7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 8 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEE5 Eukaryota
ENOG41106K3 LUCA
GeneTreeiENSGT00390000016670
HOGENOMiHOG000112730
HOVERGENiHBG055240
InParanoidiQ68CQ7
OMAiKRYSPQF
OrthoDBiEOG091G0CFQ
PhylomeDBiQ68CQ7
TreeFamiTF332433

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR002495 Glyco_trans_8
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF01501 Glyco_transf_8, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q68CQ7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSFRKVNIII LVLAVALFLL VLHHNFLSLS SLLRNEVTDS GIVGPQPIDF
60 70 80 90 100
VPNALRHAVD GRQEEIPVVI AASEDRLGGA IAAINSIQHN TRSNVIFYIV
110 120 130 140 150
TLNNTADHLR SWLNSDSLKS IRYKIVNFDP KLLEGKVKED PDQGESMKPL
160 170 180 190 200
TFARFYLPIL VPSAKKAIYM DDDVIVQGDI LALYNTALKP GHAAAFSEDC
210 220 230 240 250
DSASTKVVIR GAGNQYNYIG YLDYKKERIR KLSMKASTCS FNPGVFVANL
260 270 280 290 300
TEWKRQNITN QLEKWMKLNV EEGLYSRTLA GSITTPPLLI VFYQQHSTID
310 320 330 340 350
PMWNVRHLGS SAGKRYSPQF VKAAKLLHWN GHLKPWGRTA SYTDVWEKWY
360 370
IPDPTGKFNL IRRYTEISNI K
Length:371
Mass (Da):41,935
Last modified:May 29, 2007 - v2
Checksum:i43492FB4E678F3D0
GO
Isoform 2 (identifier: Q68CQ7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     216-259: YNYIGYLDYK...LTEWKRQNIT → VNCLPNTPLP...FIPNLKPAFL
     260-371: Missing.

Note: No experimental confirmation available.
Show »
Length:259
Mass (Da):28,544
Checksum:iEF8FB0768DA499AC
GO

Sequence cautioni

The sequence AAQ13652 differs from that shown. Reason: Frameshift at positions 26, 52, 66, 75, 85, 300, 309, 315, 317 and 349.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti50F → C in AAQ13652 (Ref. 7) Curated1
Sequence conflicti201D → G in CAH18681 (PubMed:17974005).Curated1
Sequence conflicti301P → L in AAQ13652 (Ref. 7) Curated1
Sequence conflicti349W → G in AAQ13652 (Ref. 7) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032443210R → H1 PublicationCorresponds to variant dbSNP:rs2276812Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_025705216 – 259YNYIG…RQNIT → VNCLPNTPLPTILFNGKRLQ IQGTLLLQFTLPNHFIPNLK PAFL in isoform 2. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_025706260 – 371Missing in isoform 2. 1 PublicationAdd BLAST112

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ271710 mRNA Translation: CAC19666.1
AF157318 mRNA Translation: AAF67484.1
AY358579 mRNA Translation: AAQ88942.1
AK027517 mRNA Translation: BAB55170.1
AK075031 mRNA Translation: BAC11363.1
CR749821 mRNA Translation: CAH18681.1
BC119670 mRNA Translation: AAI19671.1
BC119671 mRNA Translation: AAI19672.1
AF175227 mRNA Translation: AAQ13652.1 Frameshift.
CCDSiCCDS2862.1 [Q68CQ7-1]
RefSeqiNP_001010983.1, NM_001010983.2 [Q68CQ7-1]
NP_001265209.1, NM_001278280.1 [Q68CQ7-1]
NP_001265210.1, NM_001278281.1 [Q68CQ7-1]
NP_060916.1, NM_018446.3 [Q68CQ7-1]
NP_690909.1, NM_152932.2 [Q68CQ7-1]
XP_016862346.1, XM_017006857.1 [Q68CQ7-1]
XP_016862347.1, XM_017006858.1 [Q68CQ7-1]
XP_016862348.1, XM_017006859.1 [Q68CQ7-1]
UniGeneiHs.297304

Genome annotation databases

EnsembliENST00000266014; ENSP00000266014; ENSG00000016864 [Q68CQ7-1]
ENST00000394783; ENSP00000378263; ENSG00000016864 [Q68CQ7-1]
ENST00000478968; ENSP00000419612; ENSG00000016864 [Q68CQ7-1]
ENST00000491606; ENSP00000418853; ENSG00000016864 [Q68CQ7-1]
GeneIDi55830
KEGGihsa:55830
UCSCiuc003dfi.6 human [Q68CQ7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGL8D1_HUMAN
AccessioniPrimary (citable) accession number: Q68CQ7
Secondary accession number(s): Q7Z4D1, Q8N2J6, Q9P0I5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 29, 2007
Last modified: February 28, 2018
This is version 103 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
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Main funding by: National Institutes of Health